About: Miura type epiphyseal chondrodysplasia

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease bone development disease nodeID://b50940111
label	Miura type epiphyseal chondrodysplasia
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0070316
created_by	apujar
database_cross_reference	OMIM:615923 ORDO:329191
has_exact_synonym	ECDM (en) tall stature-scoliosis-macrodactyly of the halluces syndrome (en) tall stature-scoliosis-macrodactyly of the great toes syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940112

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